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Title: Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer
Authors: Flores López, Beatriz Armida
Ayala Madrigal, María de la Luz
Moreno Ortiz, José Miguel
Peregrina Sandoval, Jorge
Trujillo Rojas, Miguel Ángel
Venegas Rodríguez, José Luis
Hernández Ramírez, Rosario
Fernández Galindo, Martha Alejandra
Gutiérrez Angulo, Melva
Keywords: colorectal cancer
massive parallel sequencing
pathogenic variant
likely pathogenic variant
somatic variants
exome sequencing
molecular pathways
Issue Date: Aug-2022
Publisher: MDPI. International Journal of Environmental Research and Public Health
Citation: Flores-López, B.A.; Ayala-Madrigal, M.d.l.L.; Moreno-Ortiz, J.M.; Peregrina-Sandoval, J.; Trujillo-Rojas, M.Á.; Venegas-Rodríguez, J.L.; Hernández-Ramírez, R.; Fernández-Galindo, M.A.; Gutiérrez-Angulo, M. Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer. Curr. Issues Mol. Biol. 2022, 44, 3770–3778. cimb44080258
Series/Report no.: Curr. Issues Mol. Biol;44 (8), 3770-3778
Abstract: Abstract Colorectal cancer is a heterogeneous disease with multiple genomic changes that influence the clinical management of patients; thus, the search for new molecular targets remains necessary. The aim of this study was to identify genetic variants in tumor tissues from Mexican patients with colorectal cancer, using massive parallel sequencing. A total of 4813 genes were analyzed in tumoral DNA from colorectal cancer patients, using the TruSight One Sequencing panel. From these, 192 variants with clinical associations were found distributed in 168 different genes, of which 46 variants had not been previous reported in the literature or databases, although genes harboring those variants had already been described in colorectal cancer. Enrichment analysis of the affected genes was performed using Reactome software; pathway over-representation showed significance for disease, signal transduction, and immune system subsets in all patients, while exclusive subsets such as DNA repair, autophagy, and RNA metabolism were also found. Those characteristics, whether individual or shared, could give tumors specific capabilities for survival, aggressiveness, or response to treatment. Our results can be useful for future investigations targeting specific characteristics of tumors in colorectal cancer patients. The identification of exclusive or common pathways in colorectal cancer patients could be important for better diagnosis and personalized cancer treatment.
Description: Artículo
ISSN: 1467-3045
Appears in Collections:2409 Artículos

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